Theresa Brunet

34PUBLICATIONS
365CO-AUTHORS
Neurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Medical molecular engineering of nucleic acids and proteinsNeurogeneticsEpigenetics (incl. genome methylation and epigenomics)
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Publications (34)

|Aug 14, 2026
Splice effect of a synonymous variant in AP4B1: multiomics approach establishes the diagnosis in two sisters with spastic paraplegia.

|Jul 09, 2026
Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omics.

|Jul 01, 2026
CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders.

|Feb 02, 2026
Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort.

Alice Saparov, Ivana Dzinovic, Theresa Brunet

|Jan 28, 2026
De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.

Céline Jost, Tiffany Busa, Daniel Wegner

|Jan 23, 2026
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

Kevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer

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Frequent Collaborators

14 joint publications

Matias Wagner

12 joint publications

Melanie Brugger

5 joint publications

Frederic Tran-Mau-Them

5 joint publications

Michael Zech